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rs387906948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906948(C;T)
Make rs387906948(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position36935111
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs387906948
ebirs387906948
HLIrs387906948
Exacrs387906948
Varsomers387906948
Maprs387906948
PheGenIrs387906948
hapmaprs387906948
1000 genomesrs387906948
hgdprs387906948
ensemblrs387906948
gopubmedrs387906948
geneviewrs387906948
scholarrs387906948
googlers387906948
pharmgkbrs387906948
gwascentralrs387906948
openSNPrs387906948
23andMers387906948
23andMe allrs387906948
SNP Nexus

SNPshotrs387906948
SNPdbers387906948
MSV3drs387906948
GWAS Ctlgrs387906948
Max Magnitude0
ClinVar
Risk rs387906948(T;T)
Alt rs387906948(T;T)
Reference rs387906948(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 1
HGVS NC_000020.10:g.35563514G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023577.3,